Canonical Allele Identifier: CA371446833
Gene: CNGB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86643815A>C , CM000670.2:g.86643815A>C GRCh38
NC_000008.10:g.87656043A>C , CM000670.1:g.87656043A>C GRCh37
NC_000008.9:g.87725159A>C NCBI36
NG_016980.1:g.104861T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.1114T>G MANE Select ENSP00000316605.5:p.Tyr372Asp
ENST00000681546.1:n.934T>G
ENST00000681746.1:c.1114T>G ENSP00000505959.1:p.Tyr372Asp
ENST00000320005.5:c.1114T>G ENSP00000316605.5:p.Tyr372Asp
NM_019098.4:c.1114T>G NP_061971.3:p.Tyr372Asp
XM_011517138.1:c.700T>G XP_011515440.1:p.Tyr234Asp
XM_011517138.2:c.700T>G XP_011515440.1:p.Tyr234Asp
NM_019098.5:c.1114T>G MANE Select NP_061971.3:p.Tyr372Asp